BLS1
MCID: BRL011
MIFTS: 53

Bare Lymphocyte Syndrome, Type I (BLS1)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Bare Lymphocyte Syndrome, Type I

MalaCards integrated aliases for Bare Lymphocyte Syndrome, Type I:

Name: Bare Lymphocyte Syndrome, Type I 56 13 71
Hla Class I Deficiency 56 12 25 73 54
Bare Lymphocyte Syndrome Type I 12 25
Mhc Class I Deficiency 12 15
Bls, Type I 56 12
Bare Lymphocyte Syndrome, Type I, Due to Tap2 Deficiency 56
Major Histocompatibility Complex Class 1 Deficiency 52
Bare Lymphocyte Syndrome 1 73
Mhc Class 1 Deficiency 52
Bls Type I 73
Bls I 73
Blsi 12
Bls1 73
Bl-1 17

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
reduced life expectancy


HPO:

31
bare lymphocyte syndrome, type i:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060009
OMIM 56 604571
MeSH 43 D007153
ICD10 32 D81.6
MedGen 41 C1858266
UMLS 71 C1858266

Summaries for Bare Lymphocyte Syndrome, Type I

Genetics Home Reference : 25 Bare lymphocyte syndrome type I (BLS I) is an inherited disorder of the immune system (primary immunodeficiency). Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria or viruses. Starting in childhood, most people with BLS I develop recurrent bacterial infections in the lungs and airways (respiratory tract). These recurrent infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems. Many people with BLS I also have open sores (ulcers) on their skin, usually on the face, arms, and legs. These ulcers typically develop in adolescence or young adulthood. Some people with BLS I have no symptoms of the condition. People with BLS I have a shortage of specialized immune proteins called major histocompatibility complex (MHC) class I proteins on cells, including infection-fighting white blood cells (lymphocytes), which is where the condition got its name.

MalaCards based summary : Bare Lymphocyte Syndrome, Type I, also known as hla class i deficiency, is related to immunodeficiency by defective expression of mhc class i and idiopathic bronchiectasis. An important gene associated with Bare Lymphocyte Syndrome, Type I is TAPBP (TAP Binding Protein), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. The drugs Acetaminophen and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and liver, and related phenotypes are chronic otitis media and emphysema

Disease Ontology : 12 A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops from deficiency or decreased surface expression of MHC Class I, has material basis in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy.

UniProtKB/Swiss-Prot : 73 Bare lymphocyte syndrome 1: A HLA class I deficiency. Contrary to bare lymphocyte syndromes type 2 and type 3, which are characterized by early-onset severe combined immunodeficiency, class I antigen deficiencies are not accompanied by particular pathologic manifestations during the first years of life. Systemic infections have not been described. Chronic bacterial infections, often beginning in the first decade of life, are restricted to the respiratory tract.

More information from OMIM: 604571

Related Diseases for Bare Lymphocyte Syndrome, Type I

Diseases in the Bare Lymphocyte Syndrome, Type Ii family:

Bare Lymphocyte Syndrome, Type I

Diseases related to Bare Lymphocyte Syndrome, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency by defective expression of mhc class i 30.0 TAPBP TAP2 TAP1 B2M
2 idiopathic bronchiectasis 10.5 TAP2 TAP1
3 posterior uveal melanoma 10.5 TAP2 TAP1
4 selective immunoglobulin deficiency disease 10.4 SLAMF6 CD8A
5 ceftazidime allergy 10.3 KLRD1 HLA-E
6 burkitt lymphoma 10.3
7 cork-handlers' disease 10.3 CD8A CD4
8 syphilitic meningitis 10.3 CD8A CD4
9 ventilation pneumonitis 10.3 CD8A CD4
10 diffuse infiltrative lymphocytosis syndrome 10.3 CD8A CD4
11 autoimmune lymphoproliferative syndrome, type iia 10.3 CD8A CD4
12 chromosome 14q11-q22 deletion syndrome 10.3 CD8A CD4
13 diabetes mellitus, insulin-dependent, 23 10.3 CD8A CD4
14 bird fancier's lung 10.3 CD8A CD4
15 early yaws 10.3 CD8A CD4
16 parapsoriasis 10.3 CD8A CD4
17 norwegian scabies 10.3 CD8A CD4
18 metal allergy 10.3 CD8A CD4
19 variola major 10.2 CD8A CD4
20 follicular mucinosis 10.2 CD8A CD4
21 tertiary syphilis 10.2 CD8A CD4
22 spongiotic dermatitis 10.2 CD8A CD4
23 acute retinal necrosis syndrome 10.2 CD8A CD4
24 granulomatous hepatitis 10.2 CD8A CD4
25 nickel allergic contact dermatitis 10.2 CD8A CD4
26 combined thymoma 10.2 CD8A CD4
27 west nile encephalitis 10.2 CD8A CD4
28 neurosarcoidosis 10.2 CD8A CD4
29 immunodeficiency 18 10.2 CD8A CD4
30 cerebritis 10.2 CD8A CD4
31 acute interstitial pneumonia 10.2 CD8A CD4
32 parotid disease 10.2 CD8A CD4
33 superficial basal cell carcinoma 10.2 CD8A CD4
34 secondary syphilis 10.2 CD8A CD4
35 oral tuberculosis 10.2 CD8A CD4
36 farmer's lung 10.2 CD8A CD4
37 bronchiectasis 10.2
38 esophageal candidiasis 10.2 CD8A CD4
39 fibrosarcoma 10.2
40 myeloid and lymphoid neoplasms associated with fgfr1 abnormalities 10.2 CD8A CD4
41 immunodeficiency 19 10.2 CD8A CD4
42 cardiomyopathy, familial hypertrophic, 9 10.2 CD8A CD4
43 pneumonic tularemia 10.2 CD8A CD4
44 laryngeal tuberculosis 10.2 CD8A CD4
45 blastomycosis 10.1 CD8A CD4
46 pneumonic plague 10.1 CD8A CD4
47 adenoid hypertrophy 10.1 CD8A CD4
48 uveoparotid fever 10.1 CD8A CD4
49 autoimmune disease of cardiovascular system 10.1 CD8A CD4
50 good syndrome 10.1 CD8A CD4

Graphical network of the top 20 diseases related to Bare Lymphocyte Syndrome, Type I:



Diseases related to Bare Lymphocyte Syndrome, Type I

Symptoms & Phenotypes for Bare Lymphocyte Syndrome, Type I

Human phenotypes related to Bare Lymphocyte Syndrome, Type I:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 chronic otitis media 31 HP:0000389
2 emphysema 31 HP:0002097
3 skin ulcer 31 HP:0200042
4 ectopia lentis 31 HP:0001083
5 nasal polyposis 31 HP:0100582
6 chronic sinusitis 31 HP:0011109
7 bronchiectasis 31 HP:0002110
8 bronchiolitis 31 HP:0011950
9 recurrent bronchitis 31 HP:0002837

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
chronic otitis media

Head And Neck Eyes:
ectopia lentis

Respiratory Airways:
bronchitis
bronchiolitis
bronchial obstruction
unilateral bronchiectasis
bilateral bronchiectasis
more
Laboratory Abnormalities:
normal cd8+/cd4+ ratio

Respiratory Lung:
emphysema

Head And Neck Nose:
nasal polyposis
chronic sinusitis
pansinusitis

Skin Nails Hair Skin:
pigmentary abnormalities
localized cutaneous necrobiosis lipoidica
deep skin ulcers

Clinical features from OMIM:

604571

MGI Mouse Phenotypes related to Bare Lymphocyte Syndrome, Type I:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.73 B2M CD4 CD8A CIITA KLRC1 NLRC5
2 immune system MP:0005387 9.4 B2M CD4 CD8A CIITA KLRC1 KLRD1

Drugs & Therapeutics for Bare Lymphocyte Syndrome, Type I

Drugs for Bare Lymphocyte Syndrome, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetaminophen Approved Phase 4 103-90-2 1983
2
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
3
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
4
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
5
Racepinephrine Approved Phase 4 329-65-7 838
6
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
7 Anti-Anxiety Agents Phase 4
8 Tranquilizing Agents Phase 4
9 Neurotransmitter Agents Phase 4
10 Anesthetics, Local Phase 4
11 Sympathomimetics Phase 4
12 Adrenergic Agonists Phase 4
13 Epinephryl borate Phase 4
14 Respiratory System Agents Phase 4
15 Liver Extracts Phase 4
16 Anti-Asthmatic Agents Phase 4
17 Narcotics Phase 4
18 Vasoconstrictor Agents Phase 4
19 Antipyretics Phase 4
20 Analgesics, Non-Narcotic Phase 4
21 Psychotropic Drugs Phase 4
22 Anesthetics Phase 4
23 Adrenergic beta-Agonists Phase 4
24 Analgesics, Opioid Phase 4
25 Central Nervous System Depressants Phase 4
26 Anticonvulsants Phase 4
27 Antimanic Agents Phase 4
28 Autonomic Agents Phase 4
29 Bronchodilator Agents Phase 4
30 Mydriatics Phase 4
31 Analgesics Phase 4
32 Excitatory Amino Acid Antagonists Phase 4
33 Adrenergic Agents Phase 4
34 Excitatory Amino Acids Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Improving Pain Management After Total Shoulder Replacement Using Bupivacaine Liposome Recruiting NCT04134442 Phase 4 Bupivacaine Liposome Injection [Exparel];Standard Therapy
2 An 8-week Full Face HUT Design, Single Center, Double Blinded, Controlled and Randomized Study to Evaluate Different Product Regimens' Performance on Protecting Skin With Resilience Under Tracked City Environmental Aggressors Completed NCT03264677

Search NIH Clinical Center for Bare Lymphocyte Syndrome, Type I

Genetic Tests for Bare Lymphocyte Syndrome, Type I

Anatomical Context for Bare Lymphocyte Syndrome, Type I

MalaCards organs/tissues related to Bare Lymphocyte Syndrome, Type I:

40
Lung, Skin, Liver, B Cells, Bone Marrow, Bone, Colon

Publications for Bare Lymphocyte Syndrome, Type I

Articles related to Bare Lymphocyte Syndrome, Type I:

(show all 24)
# Title Authors PMID Year
1
A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination. 54 56 6
12149238 2002
2
Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome. 61 56 6
10074494 1999
3
Homozygous human TAP peptide transporter mutation in HLA class I deficiency. 61 56 6
7517574 1994
4
Association of a syndrome resembling Wegener's granulomatosis with low surface expression of HLA class-I molecules. 56 6
10560675 1999
5
Defective expression of HLA class I antigens: a case of the bare lymphocyte without immunodeficiency. 56 6
3891604 1985
6
HLA class I deficiencies due to mutations in subunit 1 of the peptide transporter TAP1. 54 61
10074495 1999
7
Chronic granulomatous skin lesions leading to a diagnosis of TAP1 deficiency syndrome. 61
30189467 2018
8
HLA class I deficiency as an additional cause of bronchiectasis. 61
26172480 2015
9
HLA class I deficiency as an additional cause of bronchiectasis - Reply. 61
26172572 2015
10
TAP deficiency syndrome: chronic rhinosinusitis and conductive hearing loss. 61
18283480 2008
11
HLA class I deficiency syndrome mimicking Wegener's granulomatosis. 61
18668571 2008
12
Novel human pathological mutations. Gene symbol: TAP2. Disease: HLA class I deficiency. 61
17879436 2007
13
Novel human pathological mutations. Gene symbol: TAP2. Disease: HLA class I deficiency. 61
17879452 2007
14
Clinical and immunological aspects of HLA class I deficiency. 61
16087697 2005
15
Recurrent infections and bilateral uveitis in a patient with CD8 deficiency. 61
17301423 2005
16
[Molecular basis of HLA class-I deficiency and bare lymphocyte syndrome (BLS)]. 61
15995590 2005
17
Skewed inhibitory receptors expression in a TAP2-deficient patient. 61
12644316 2003
18
Asymptomatic deficiency in the peptide transporter associated to antigen processing (TAP). 61
12067308 2002
19
Prolonged survival of a bare lymphocyte syndrome type I patient with diffuse panbronchiolitis treated with erythromycin. 61
11587107 2001
20
Granulomatous disease associated with HLA class I deficiency. 61
11298563 2001
21
Tolerance of NK and LAK activity for HLA class I-deficient targets in a TAP1-deficient patient (bare lymphocyte syndrome type I). 61
9952025 1999
22
Corrections and clarifications. 61
17841697 1994
23
CD1 expression is not affected by human peptide transporter deficiency. 61
7530699 1994
24
[The bare lymphocyte syndrome. Combined immune deficiency by absence of HLA antigen expression]. 61
6231562 1984

Variations for Bare Lymphocyte Syndrome, Type I

ClinVar genetic disease variations for Bare Lymphocyte Syndrome, Type I:

6 (show top 50) (show all 101) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TAPBP TAPBP, 7.4-KB DELdeletion Pathogenic 7606
2 TAP2 NM_000544.3(TAP2):c.817C>T (p.Arg273Ter)SNV Pathogenic 13727 6:32803059-32803059 6:32835282-32835282
3 TAP2 TAP2, 1-BP DELdeletion Pathogenic 13728
4 TAP1 TAP1, IVS1, G-A, -1SNV Pathogenic 13732
5 TAP2 NM_000544.3(TAP2):c.958del (p.Glu320fs)deletion Pathogenic 571072 rs1562331529 6:32800589-32800589 6:32832812-32832812
6 TAP1 NM_000593.5(TAP1):c.1151C>G (p.Ser384Ter)SNV Pathogenic 642101 6:32818800-32818800 6:32851023-32851023
7 TAP2 NM_000544.3(TAP2):c.217_218del (p.Thr73fs)deletion Likely pathogenic 626224 rs1321880935 6:32805793-32805794 6:32838016-32838017
8 TAP2 NM_000544.3(TAP2):c.1272+1G>ASNV Likely pathogenic 534707 rs1222208628 6:32800109-32800109 6:32832332-32832332
9 TAPBP NM_003190.4(TAPBP):c.591G>A (p.Pro197=)SNV Conflicting interpretations of pathogenicity 626175 rs200497341 6:33273043-33273043 6:33305266-33305266
10 TAP1 NM_000593.5(TAP1):c.289C>T (p.Arg97Trp)SNV Uncertain significance 654569 6:32821305-32821305 6:32853528-32853528
11 TAP1 NM_000593.5(TAP1):c.184G>A (p.Ala62Thr)SNV Uncertain significance 665818 6:32821410-32821410 6:32853633-32853633
12 TAP1 NM_000593.5(TAP1):c.73C>T (p.Pro25Ser)SNV Uncertain significance 640487 6:32821521-32821521 6:32853744-32853744
13 TAPBP NM_003190.4(TAPBP):c.1046T>C (p.Leu349Pro)SNV Uncertain significance 639896 6:33272238-33272238 6:33304461-33304461
14 TAPBP NM_003190.4(TAPBP):c.1001G>A (p.Gly334Asp)SNV Uncertain significance 665431 6:33272283-33272283 6:33304506-33304506
15 TAPBP NM_003190.4(TAPBP):c.974G>A (p.Gly325Asp)SNV Uncertain significance 661409 6:33272310-33272310 6:33304533-33304533
16 TAPBP NM_003190.4(TAPBP):c.932C>T (p.Pro311Leu)SNV Uncertain significance 661969 6:33272352-33272352 6:33304575-33304575
17 TAPBP NM_003190.4(TAPBP):c.872C>A (p.Pro291His)SNV Uncertain significance 651374 6:33272412-33272412 6:33304635-33304635
18 TAPBP NM_003190.4(TAPBP):c.601C>T (p.Pro201Ser)SNV Uncertain significance 661809 6:33273033-33273033 6:33305256-33305256
19 TAPBP NM_003190.4(TAPBP):c.562A>G (p.Thr188Ala)SNV Uncertain significance 657524 6:33273072-33273072 6:33305295-33305295
20 TAPBP NM_003190.4(TAPBP):c.556C>T (p.Pro186Ser)SNV Uncertain significance 648764 6:33273078-33273078 6:33305301-33305301
21 TAPBP NM_003190.5(TAPBP):c.312del (p.Lys104fs)deletion Uncertain significance 656048 6:33281151-33281151 6:33313374-33313374
22 TAP2 NM_000544.3(TAP2):c.1933-6_1933-3deldeletion Uncertain significance 657703 6:32796814-32796817 6:32829037-32829040
23 TAPBP NM_003190.4(TAPBP):c.129_470-3609deldeletion Uncertain significance 646471 6:33308996-33313773
24 TAP1 NM_000593.5(TAP1):c.2220+6G>ASNV Uncertain significance 640506 6:32814839-32814839 6:32847062-32847062
25 TAP1 NM_000593.5(TAP1):c.1558-4C>GSNV Uncertain significance 655699 6:32816621-32816621 6:32848844-32848844
26 TAPBP NM_003190.4(TAPBP):c.1300+3_1300+6deldeletion Uncertain significance 649689 6:33271899-33271902 6:33304122-33304125
27 TAP2 NM_000544.3(TAP2):c.359G>T (p.Ser120Ile)SNV Uncertain significance 534701 rs932756573 6:32805652-32805652 6:32837875-32837875
28 TAP1 NM_000593.5(TAP1):c.496_516dup (p.Ala166_Leu172dup)duplication Uncertain significance 534704 rs1311169361 6:32821077-32821078 6:32853300-32853301
29 TAP2 NM_000544.3(TAP2):c.1776G>A (p.Met592Ile)SNV Uncertain significance 534713 rs147150415 6:32797726-32797726 6:32829949-32829949
30 TAP2 NM_000544.3(TAP2):c.656C>T (p.Ser219Phe)SNV Uncertain significance 534711 rs1554235670 6:32803503-32803503 6:32835726-32835726
31 TAP1 NM_000593.5(TAP1):c.1313G>A (p.Arg438Gln)SNV Uncertain significance 466379 rs373810087 6:32818212-32818212 6:32850435-32850435
32 TAP1 NM_000593.5(TAP1):c.122C>T (p.Pro41Leu)SNV Uncertain significance 466376 rs554237124 6:32821472-32821472 6:32853695-32853695
33 TAPBP NM_003190.4(TAPBP):c.1181G>A (p.Arg394His)SNV Uncertain significance 466395 rs763198738 6:33272103-33272103 6:33304326-33304326
34 TAPBP NM_003190.4(TAPBP):c.464C>G (p.Ala155Gly)SNV Uncertain significance 466398 rs747106102 6:33280999-33280999 6:33313222-33313222
35 TAP2 NM_000544.3(TAP2):c.1909C>A (p.Leu637Ile)SNV Uncertain significance 466370 rs752068310 6:32797200-32797200 6:32829423-32829423
36 TAP1 NM_000593.5(TAP1):c.2399T>C (p.Val800Ala)SNV Uncertain significance 466387 rs1554242514 6:32813384-32813384 6:32845607-32845607
37 TAP1 NM_000593.5(TAP1):c.989G>A (p.Arg330His)SNV Uncertain significance 466394 rs140245535 6:32819921-32819921 6:32852144-32852144
38 TAP1 NM_000593.5(TAP1):c.919G>A (p.Gly307Arg)SNV Uncertain significance 466392 rs59328013 6:32819991-32819991 6:32852214-32852214
39 TAPBP NM_003190.4(TAPBP):c.562A>T (p.Thr188Ser)SNV Uncertain significance 466399 rs561629511 6:33273072-33273072 6:33305295-33305295
40 TAP1 NM_000593.5(TAP1):c.1300A>T (p.Met434Leu)SNV Uncertain significance 466378 rs779844691 6:32818225-32818225 6:32850448-32850448
41 TAP2 NM_000544.3(TAP2):c.818G>A (p.Arg273Gln)SNV Uncertain significance 642994 6:32803058-32803058 6:32835281-32835281
42 TAP2 NM_000544.3(TAP2):c.2005G>A (p.Ala669Thr)SNV Uncertain significance 641118 6:32796739-32796739 6:32828962-32828962
43 TAP2 NM_000544.3(TAP2):c.1852G>T (p.Ala618Ser)SNV Uncertain significance 649505 6:32797257-32797257 6:32829480-32829480
44 TAP2 NM_000544.3(TAP2):c.1769A>G (p.Gln590Arg)SNV Uncertain significance 664292 6:32797733-32797733 6:32829956-32829956
45 TAP2 NM_000544.3(TAP2):c.1720G>A (p.Asp574Asn)SNV Uncertain significance 661661 6:32797782-32797782 6:32830005-32830005
46 TAP2 NM_000544.3(TAP2):c.1714G>A (p.Glu572Lys)SNV Uncertain significance 639852 6:32797788-32797788 6:32830011-32830011
47 TAP2 NM_000544.3(TAP2):c.1655A>G (p.Glu552Gly)SNV Uncertain significance 640861 6:32797847-32797847 6:32830070-32830070
48 TAP2 NM_000544.3(TAP2):c.1373C>T (p.Thr458Met)SNV Uncertain significance 641651 6:32798483-32798483 6:32830706-32830706
49 TAP2 NM_000544.3(TAP2):c.100G>A (p.Gly34Arg)SNV Uncertain significance 643299 6:32805911-32805911 6:32838134-32838134
50 TAP1 NM_000593.5(TAP1):c.2005A>G (p.Met669Val)SNV Uncertain significance 644588 6:32815368-32815368 6:32847591-32847591

Expression for Bare Lymphocyte Syndrome, Type I

Search GEO for disease gene expression data for Bare Lymphocyte Syndrome, Type I.

Pathways for Bare Lymphocyte Syndrome, Type I

Pathways related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.84 TAPBP TAP2 TAP1 SLAMF6 PSMB9 NLRC5
2
Show member pathways
13.28 TAPBP TAP2 TAP1 SLAMF6 PSMB9 LILRB1
3
Show member pathways
12.78 TAPBP TAP2 TAP1 HLA-E CD4 B2M
4
Show member pathways
12.64 TAPBP TAP2 TAP1 HLA-E CIITA B2M
5 12.63 TAPBP TAP2 TAP1 HLA-E B2M
6 12.42 TAP2 TAP1 LILRB1 CIITA CD8A B2M
7
Show member pathways
12.36 TAPBP TAP2 TAP1 PSMB9 HLA-E CD8A
8
Show member pathways
12.18 TAPBP TAP2 TAP1 RFXAP RFXANK RFX5
9 12.08 RFXAP RFXANK RFX5 CIITA
10 11.83 SLAMF6 LILRB1 KLRD1 KLRC1 HLA-E CD8A
11 11.82 KLRC1 CD8A CD4
12
Show member pathways
11.8 CD8A CD4 B2M
13
Show member pathways
11.77 CD8A CD4 B2M
14 11.63 KLRD1 CD8A CD4
15 11.31 KLRD1 KLRC1 HLA-E
16 11.22 TAP1 PSMB9 CIITA
17 11.14 TAP2 TAP1 RFXAP RFXANK RFX5 CIITA
18 11.05 TAPBP TAP2 TAP1 HLA-E B2M

GO Terms for Bare Lymphocyte Syndrome, Type I

Cellular components related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.65 LILRB1 KLRD1 HLA-E CD8A CD4
2 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.5 TAPBP TAP2 TAP1
3 MHC class I protein complex GO:0042612 9.37 HLA-E B2M
4 phagocytic vesicle membrane GO:0030670 9.35 TAPBP TAP2 TAP1 HLA-E B2M
5 TAP complex GO:0042825 9.16 TAP2 TAP1
6 MHC class I peptide loading complex GO:0042824 8.92 TAPBP TAP2 TAP1 B2M

Biological processes related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.97 TAP2 TAP1 SLAMF6 PSMB9 NLRC5 HLA-E
2 innate immune response GO:0045087 9.96 SLAMF6 NLRC5 KLRD1 HLA-E B2M
3 immune response GO:0006955 9.93 TAPBP HLA-E CIITA CD8A CD4 B2M
4 adaptive immune response GO:0002250 9.88 TAP2 TAP1 LILRB1 HLA-E CD4
5 cell surface receptor signaling pathway GO:0007166 9.85 KLRD1 KLRC1 CD8A CD4
6 regulation of immune response GO:0050776 9.8 SLAMF6 LILRB1 KLRD1 KLRC1 HLA-E CD8A
7 interferon-gamma-mediated signaling pathway GO:0060333 9.7 HLA-E CIITA B2M
8 peptide transport GO:0015833 9.58 TAPBP TAP2 TAP1
9 negative regulation of natural killer cell mediated cytotoxicity GO:0045953 9.54 LILRB1 HLA-E
10 vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane GO:1990668 9.54 TAPBP TAP2 TAP1
11 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.51 HLA-E B2M
12 positive regulation of MHC class I biosynthetic process GO:0045345 9.49 NLRC5 CIITA
13 antigen processing and presentation of endogenous peptide antigen via MHC class I GO:0019885 9.46 TAPBP TAP2 TAP1 B2M
14 cytosol to ER transport GO:0046967 9.43 TAP2 TAP1
15 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.35 TAPBP TAP2 TAP1 HLA-E B2M
16 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.1 TAPBP TAP2 TAP1 PSMB9 HLA-E B2M

Molecular functions related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.44 TAPBP TAP2 TAP1 SLAMF6 RFXANK RFX5
2 peptide antigen binding GO:0042605 9.54 TAPBP TAP1 HLA-E
3 MHC class Ib protein binding GO:0023029 9.5 TAP2 TAP1 LILRB1
4 MHC protein binding GO:0042287 9.49 TAP2 TAP1
5 peptide transmembrane transporter activity GO:1904680 9.48 TAP2 TAP1
6 protein antigen binding GO:1990405 9.46 KLRD1 KLRC1
7 peptide-transporting ATPase activity GO:0015440 9.43 TAP2 TAP1
8 MHC class I protein complex binding GO:0023024 9.43 KLRD1 KLRC1 CD8A
9 TAP2 binding GO:0046979 9.4 TAPBP TAP1
10 TAP1 binding GO:0046978 9.33 TAPBP TAP2 TAP1
11 peptide antigen-transporting ATPase activity GO:0015433 9.13 TAPBP TAP2 TAP1
12 MHC class I protein binding GO:0042288 9.02 TAPBP TAP1 LILRB1 HLA-E CD8A

Sources for Bare Lymphocyte Syndrome, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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